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- W4378171873 abstract "Shwachman-Diamond syndrome is a rare inherited bone marrow failure syndrome characterized by neutropenia, exocrine pancreatic insufficiency, and skeletal abnormalities. In 10-30%, transformation to a myeloid neoplasm occurs. Approximately 90% of patients have biallelic pathogenic variants in the SBDS gene located on human chromosome 7q11. In the past several years, pathogenic variants in three other genes have been identified to cause similar phenotypes. These are DNAJC21, EFL1, and SRP54. Clinical manifestations involve multiple organ systems and those classically associated with the Shwachman-Diamond syndrome (bone, blood, and pancreas). Neurocognitive, dermatologic, and retinal changes may also be found. There are specific gene-phenotype differences. To date, SBDS, DNAJC21, and SRP54 variants have been associated with myeloid neoplasia. Common to SBDS, EFL1, DNAJC21, and SRP54 is their involvement in ribosome biogenesis or early protein synthesis. These four genes constitute a common biochemical pathway conserved from yeast to humans that involve early stages of protein synthesis and demonstrate the importance of this synthetic pathway in myelopoiesis. We propose to use the terms Shwachman-Diamond-like syndrome or Shwachman-Diamond syndromes." @default.
- W4378171873 created "2023-05-26" @default.
- W4378171873 creator A5021123711 @default.
- W4378171873 creator A5031423349 @default.
- W4378171873 creator A5037721874 @default.
- W4378171873 creator A5037849868 @default.
- W4378171873 creator A5068797086 @default.
- W4378171873 date "2023-05-25" @default.
- W4378171873 modified "2023-10-05" @default.
- W4378171873 title "Shwachman-Diamond syndromes: clinical, genetic, and biochemical insights from the rare variants" @default.
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- W4378171873 doi "https://doi.org/10.3324/haematol.2023.282949" @default.